A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3381471



Internal ID15228443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:70699936..70699951hg38UCSC Ensembl
Innerchr3:70699910..70699977hg38UCSC Ensembl
Outerchr3:70699895..70699992hg38UCSC Ensembl
chr3:70749087..70749102hg19UCSC Ensembl
Innerchr3:70749061..70749128hg19UCSC Ensembl
Outerchr3:70749046..70749143hg19UCSC Ensembl
chr3:70831777..70831792hg18UCSC Ensembl
Innerchr3:70831818..70831751hg18UCSC Ensembl
Outerchr3:70831736..70831833hg18UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864149
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3381471
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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